A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5868880



Internal ID22643815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17267651..17294688hg38UCSC Ensembl
chr1:17594146..17621183hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3827038
hg1927038
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17364008
Samples
Known GenesPADI3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5868880
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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